Study Reveals Roles for Fragile X Syndrome Proteins (FMRP and FXRP2) in Controlling GluA1 Expression and Neuronal Maturation

Fragile X syndrome is the most common inherited intellectual disability and the greatest single genetic contributor to autism. Unlocking the mechanisms underlying fragile X syndrome could reveal significant new information about about the brain. In a new study, published online on June, 4, 2015 in the journal Cell Reports, researchers from the University of Wisconsin-Madison’s Waisman Center and Department of Neuroscience show that two proteins implicated in fragile X syndrome play a crucial role in the proper development of neurons in mice. They also show that while the two proteins act through distinct mechanisms in the formation of new neurons, they also share some duties. The Cell Reports article is titled “Fragile X Proteins FMRP and FXR2P Control Synaptic GluA1 Expression and Neuronal Maturation via Distinct Mechanisms.” “This is the first demonstration of the additive function of fragile X proteins in neuronal development,” says study corresponding author and Waisman Center and Department of Neuroscience Professor Xinyu Zhao. Relatively little is known about the underlying mechanisms that lead to the cognitive and learning deficits in fragile X syndrome, Dr. Zhao says, making it difficult to devise effective therapies. She studies the two fragile X proteins, FMRP (fragile X mental retardation protein) and FXR2P (the autosomal paralog of FMRP), because doing so could yield new information that might ultimately lead to effective treatment for fragile X syndrome, as well as for other disorders marked by defects in neuronal development, such as autism and schizophrenia. For instance, while FXR2P has been shown to be important in autism, the function of the protein and its contribution to fragile X syndrome has been unclear, Dr. Zhao says.
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